LRP2
HGNC:6694 · SaudiVarKB evidence summary derived from retained literature mentions.
4Gene mentions
4Publications
6Linked variants
1Associated phenotypes
Associated phenotypes
Co-mentioned in LRP2 publications| Phenotype | Identifier | Articles | Mentions |
|---|---|---|---|
| hearing loss | HP:0000365 | 1 | 1 |
Linked variants
Variants normalized to LRP2| Variant | HGVS / rsID | Articles | Mentions |
|---|---|---|---|
| c.4968C>G | c.4968C>G | 1 | 1 |
| p.Tyr1656* | p.Tyr1656* | 1 | 1 |
| c.12062G>A | c.12062G>A | 1 | 1 |
| p.Cys4021Tyr | p.Cys4021Tyr | 1 | 1 |
| rs2075252 | rs2075252 | 1 | 1 |
| rs4667591 | rs4667591 | 1 | 1 |
Population context
Reported in the same publications| Country / region | Group | Cohort | Articles |
|---|---|---|---|
| Saudi Arabia · Jeddah | — | — | 1 |
| Saudi Arabia | — | 4 | 1 |
| Saudi Arabia | — | 21 | 1 |
Supporting publications
4 records- 2023Use of whole exome sequencing for identification of genetic variants related to Growth Hormone Deficiency and Short Stature: A Family-Based Study.Pakistan journal of medical sciences1 mentions
- 2021Whole-Exome Sequencing Analysis of Oral Squamous Cell Carcinoma Delineated by Tobacco Usage Habits.Frontiers in oncology1 mentions
- 2021Whole-Exome Sequencing for Identification of Genetic Variants Involved in Vitamin D Metabolic Pathways in Families With Vitamin D Deficiency in Saudi Arabia.Frontiers in genetics1 mentions
- 2015Variable expression pattern in Donnai-Barrow syndrome: Report of two novel LRP2 mutations and review of the literature.European journal of medical genetics1 mentions